Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer
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- 作者：Karin Kast (1)
Teresa M Neuhann (2) (3)
Heike G?rgens (4)
Kerstin Becker (2)
Katja Keller (1)
Barbara Klink (2)
Daniela Aust (5)
Wolfgang Distler (1)
Evelin Schr?ck (2)
Hans K Schackert (4) - 刊名：BMC Cancer
- 出版年：2012
- 出版时间：December 2012
- 年：2012
- 卷：12
- 期：1
- 全文大小：153KB
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34. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2407/12/531/prepub - 作者单位：Karin Kast (1)
Teresa M Neuhann (2) (3)
Heike G?rgens (4)
Kerstin Becker (2)
Katja Keller (1)
Barbara Klink (2)
Daniela Aust (5)
Wolfgang Distler (1)
Evelin Schr?ck (2)
Hans K Schackert (4)
1. Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universit?t Dresden, Dresden, Germany
2. Institute for Clinical Genetics, Technische Universit?t Dresden, Dresden, Germany
3. Medical Genetic Center, Munich, Germany
4. Department of Surgical Research, University Hospital Carl Gustav Carus, Technische Universit?t Dresden, Dresden, Germany
5. Institute of Pathology, University Hospital Carl Gustav Carus, Technische Universit?t Dresden, Dresden, Germany - ISSN：1471-2407
文摘
Background Hereditary Breast and Ovarian Cancer Syndrome (HBOCS) and Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC, Lynch Syndrome) are two tumor predisposition syndromes responsible for the majority of hereditary breast and colorectal cancers. Carriers of both germline mutations in breast cancer genes BRCA1 or BRCA2 and in mismatch repair (MMR) genes MLH1, MSH2, MSH6 or PMS2 are very rare. Case presentation We identified germline mutations in BRCA1 and in MSH6 in a patient with increased risk for HBOC diagnosed with endometrial cancer at the age of 46 years. Conclusions Although carriers of mutations in both MMR and BRCA genes are rare in Caucasian populations and anamnestical and histopathological findings may guide clinicians to identify these families, both syndromes can only be diagnosed through a complete gene analysis of the respective genes.